Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1-Reference-Cited by-同舟云学术

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

Published:2017-01-03 Issue:1 Volume:12 Page:e0169215
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Chung Doug D.^ORCID,Frausto Ricardo F.,Cervantes Aleck E.,Gee Katherine M.,Zakharevich Marina,Hanser Evelyn M.,Stone Edwin M.,Heon Elise,Aldave Anthony J.

Funder

National Eye Institute

Stotter Revocable Trust

Research to Prevent Blindness

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference29 articles.

1. IC3D classification of corneal dystrophies—edition 2;JS Weiss;Cornea,2015

2. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells;CM Krafchak;Am J Hum Genet,2005

3. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia;AJ Aldave;Am J Med Genet A,2007

4. Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3;P Liskova;Eur J Hum Genet,2015

5. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy;P Liskova;Hum Mutat,2007

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4. New Endothelial Corneal Dystrophy in a Chinese Family;Cornea;2023-02-07

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